Canonical Allele Identifier: CA964935834

Gene: POMT2

Linked Data

• dbSNP Id: rs1891015470
• gnomAD v3: 14-77301008-TAG-T
• gnomAD v4: 14-77301008-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301012_77301013del , CM000676.2:g.77301012_77301013del	GRCh38
NC_000014.8:g.77767355_77767356del , CM000676.1:g.77767355_77767356del	GRCh37
NC_000014.7:g.76837108_76837109del	NCBI36
NG_008897.1:g.24873_24874del , LRG_844:g.24873_24874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.269+80_269+81del	ENSP00000508202.1:n.269+80_269+81del
ENST00000556394.2:c.358-1449_358-1448del	ENSP00000451967.2:n.358-1449_358-1448del
ENST00000557289.2:c.160+80_160+81del
ENST00000682247.1:c.816+80_816+81del	ENSP00000507213.1:n.816+80_816+81del
ENST00000682382.1:c.496-2239_496-2238del
ENST00000682395.1:n.545+80_545+81del
ENST00000682459.1:n.480+80_480+81del
ENST00000682467.1:c.816+80_816+81del	ENSP00000508062.1:n.816+80_816+81del
ENST00000682795.1:c.816+80_816+81del	ENSP00000507574.1:n.816+80_816+81del
ENST00000682895.1:n.532+80_532+81del
ENST00000682955.1:n.212-2239_212-2238del
ENST00000683167.1:c.160+80_160+81del
ENST00000683188.1:c.343-1449_343-1448del
ENST00000683300.1:c.109+3682_109+3683del	ENSP00000507630.1:n.109+3682_109+3683del
ENST00000683328.1:c.109+3682_109+3683del	ENSP00000508096.1:n.109+3682_109+3683del
ENST00000683380.1:n.480+80_480+81del
ENST00000683398.1:c.161-9_161-8del
ENST00000683551.1:c.109+1825_109+1826del
ENST00000683828.1:c.526-1449_526-1448del
ENST00000684259.1:n.667+80_667+81del
ENST00000684549.1:n.368-1449_368-1448del
ENST00000684554.1:c.160+80_160+81del
ENST00000261534.9:c.816+80_816+81del MANE Select	ENSP00000261534.4:n.816+80_816+81del
ENST00000261534.8:c.816+80_816+81del	ENSP00000261534.4:n.816+80_816+81del
ENST00000452340.7:n.839+80_839+81del
ENST00000553863.5:n.480+80_480+81del
ENST00000554767.5:n.154_155del
ENST00000556326.5:c.*482+80_*482+81del	ENSP00000450630.1:n.*482+80_*482+81del
ENST00000557289.1:c.56-1449_56-1448del	ENSP00000451115.1:n.56-1449_56-1448del
NM_013382.5:c.816+80_816+81del , LRG_844t1:c.816+80_816+81del	NP_037514.2:n.816+80_816+81del
XM_011536675.1:c.816+80_816+81del	XP_011534977.1:n.816+80_816+81del
XM_011536676.1:c.483+80_483+81del	XP_011534978.1:n.483+80_483+81del
XM_011536677.1:c.547+3682_547+3683del	XP_011534979.1:n.547+3682_547+3683del
XM_011536678.1:c.816+80_816+81del	XP_011534980.1:n.816+80_816+81del
XM_011536679.1:c.-90-1449_-90-1448del	XP_011534981.1:n.-90-1449_-90-1448del
XM_011536680.1:c.816+80_816+81del	XP_011534982.1:n.816+80_816+81del
XR_943416.1:n.1019+80_1019+81del
XM_011536675.2:c.816+80_816+81del	XP_011534977.1:n.816+80_816+81del
XM_011536676.2:c.483+80_483+81del	XP_011534978.1:n.483+80_483+81del
XM_011536677.3:c.547+3682_547+3683del	XP_011534979.1:n.547+3682_547+3683del
XR_001750279.1:n.1016+80_1016+81del
XR_001750282.1:n.1020+80_1020+81del
XR_943416.3:n.1017+80_1017+81del
NM_013382.6:c.816+80_816+81del	NP_037514.2:n.816+80_816+81del
NM_013382.7:c.816+80_816+81del MANE Select	NP_037514.2:n.816+80_816+81del